ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3682GAAATA[1] (p.1228EI[1])

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004602516 SCV005101009 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-26 criteria provided, single submitter clinical testing The c.3688_3693delGAAATA variant (also known as p.E1230_I1231del) is located in coding exon 19 of the BRIP1 gene. This variant results from an in-frame GAAATA deletion at nucleotide positions 3688 to 3693. This results in the in-frame deletion of two amino acids at codons 1230 to 1231. This amino acid region is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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